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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 16-89196109-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89196109&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89196109,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001384763.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.1231G>T",
"hgvs_p": "p.Asp411Tyr",
"transcript": "NM_001384763.1",
"protein_id": "NP_001371692.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 446,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682282.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384763.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.1231G>T",
"hgvs_p": "p.Asp411Tyr",
"transcript": "ENST00000682282.1",
"protein_id": "ENSP00000508250.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 446,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384763.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682282.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.1177G>T",
"hgvs_p": "p.Asp393Tyr",
"transcript": "NM_001366322.1",
"protein_id": "NP_001353251.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 428,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366322.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.1030G>T",
"hgvs_p": "p.Asp344Tyr",
"transcript": "NM_001384764.1",
"protein_id": "NP_001371693.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 379,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384764.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Asp303Tyr",
"transcript": "NM_001384766.1",
"protein_id": "NP_001371695.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 338,
"cds_start": 907,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384766.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Asp303Tyr",
"transcript": "NM_001384767.1",
"protein_id": "NP_001371696.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 338,
"cds_start": 907,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384767.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Asp303Tyr",
"transcript": "NM_001384768.1",
"protein_id": "NP_001371697.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 338,
"cds_start": 907,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384768.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Asp303Tyr",
"transcript": "NM_001384769.1",
"protein_id": "NP_001371698.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 338,
"cds_start": 907,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384769.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Asp303Tyr",
"transcript": "ENST00000562855.7",
"protein_id": "ENSP00000474621.2",
"transcript_support_level": 5,
"aa_start": 303,
"aa_end": null,
"aa_length": 338,
"cds_start": 907,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562855.7"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.907G>T",
"hgvs_p": "p.Asp303Tyr",
"transcript": "ENST00000614943.4",
"protein_id": "ENSP00000481421.1",
"transcript_support_level": 5,
"aa_start": 303,
"aa_end": null,
"aa_length": 338,
"cds_start": 907,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614943.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.625G>T",
"hgvs_p": "p.Asp209Tyr",
"transcript": "NM_001384772.1",
"protein_id": "NP_001371701.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 244,
"cds_start": 625,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384772.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.625G>T",
"hgvs_p": "p.Asp209Tyr",
"transcript": "NM_001384773.1",
"protein_id": "NP_001371702.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 244,
"cds_start": 625,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384773.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.625G>T",
"hgvs_p": "p.Asp209Tyr",
"transcript": "NM_001384775.1",
"protein_id": "NP_001371704.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 244,
"cds_start": 625,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384775.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.1006G>T",
"hgvs_p": "p.Asp336Tyr",
"transcript": "XM_017022962.2",
"protein_id": "XP_016878451.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 371,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022962.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.825G>T",
"hgvs_p": "p.Pro275Pro",
"transcript": "NM_001384770.1",
"protein_id": "NP_001371699.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 331,
"cds_start": 825,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384770.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.750G>T",
"hgvs_p": "p.Pro250Pro",
"transcript": "NM_001384771.1",
"protein_id": "NP_001371700.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 306,
"cds_start": 750,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384771.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.924G>T",
"hgvs_p": "p.Pro308Pro",
"transcript": "XM_047433647.1",
"protein_id": "XP_047289603.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 364,
"cds_start": 924,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433647.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "c.*41G>T",
"hgvs_p": null,
"transcript": "NM_001384765.1",
"protein_id": "NP_001371694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 348,
"cds_start": null,
"cds_end": null,
"cds_length": 1047,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384765.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "n.*238G>T",
"hgvs_p": null,
"transcript": "ENST00000562916.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000562916.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"hgvs_c": "n.*42G>T",
"hgvs_p": null,
"transcript": "ENST00000563595.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000563595.6"
}
],
"gene_symbol": "SLC22A31",
"gene_hgnc_id": 27091,
"dbsnp": "rs575619368",
"frequency_reference_population": 0.0000014474168,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000144742,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2676851749420166,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.2601,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.893,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001384763.1",
"gene_symbol": "SLC22A31",
"hgnc_id": 27091,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1231G>T",
"hgvs_p": "p.Asp411Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}